ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as pathogenic by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

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Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.1000G>A (p.Asp334Asn)
NM_000202.8(IDS):c.1001A>C (p.Asp334Ala)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1004A>C (p.His335Pro)
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1006+1G>C rs869025308
NM_000202.8(IDS):c.1006+1G>T rs869025308
NM_000202.8(IDS):c.1006+2T>A
NM_000202.8(IDS):c.1006+2T>C
NM_000202.8(IDS):c.1006+2T>G rs2089378420
NM_000202.8(IDS):c.1006G>A (p.Gly336Arg)
NM_000202.8(IDS):c.1006G>C (p.Gly336Arg)
NM_000202.8(IDS):c.1007-1G>A rs2520785671
NM_000202.8(IDS):c.1007-1G>C
NM_000202.8(IDS):c.1007-2A>C rs2124006451
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu) rs2520785646
NM_000202.8(IDS):c.1007G>T (p.Gly336Val)
NM_000202.8(IDS):c.1007_1046del
NM_000202.8(IDS):c.1009T>C (p.Trp337Arg)
NM_000202.8(IDS):c.1009del (p.Trp337fs)
NM_000202.8(IDS):c.1010G>A (p.Trp337Ter)
NM_000202.8(IDS):c.1011G>A (p.Trp337Ter)
NM_000202.8(IDS):c.1016T>G (p.Leu339Arg)
NM_000202.8(IDS):c.1018G>C (p.Gly340Arg) rs2124006398
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp) rs2520785446
NM_000202.8(IDS):c.1019G>T (p.Gly340Val)
NM_000202.8(IDS):c.1020_1021dup (p.Glu341fs)
NM_000202.8(IDS):c.1023del (p.Glu341fs)
NM_000202.8(IDS):c.1025dup (p.His342fs)
NM_000202.8(IDS):c.1026_1027delinsAT (p.His342_Gly343delinsGlnTer)
NM_000202.8(IDS):c.1030G>T (p.Glu344Ter)
NM_000202.8(IDS):c.1034G>A (p.Trp345Ter)
NM_000202.8(IDS):c.1035G>A (p.Trp345Ter)
NM_000202.8(IDS):c.1036del (p.Ala346fs)
NM_000202.8(IDS):c.1037C>T (p.Ala346Val)
NM_000202.8(IDS):c.1038del (p.Lys347fs)
NM_000202.8(IDS):c.1039A>C (p.Lys347Gln)
NM_000202.8(IDS):c.1039A>G (p.Lys347Glu)
NM_000202.8(IDS):c.1040A>T (p.Lys347Ile)
NM_000202.8(IDS):c.1043_1050del (p.Tyr348fs)
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.1044del (p.Lys347_Tyr348insTer)
NM_000202.8(IDS):c.1046G>T (p.Ser349Ile)
NM_000202.8(IDS):c.1049del (p.Asn350fs)
NM_000202.8(IDS):c.1053del (p.Phe351fs)
NM_000202.8(IDS):c.1060_1071del (p.Ala354_Val357del)
NM_000202.8(IDS):c.1075del (p.Pro358_Leu359insTer)
NM_000202.8(IDS):c.1080_1086del (p.Ile360fs)
NM_000202.8(IDS):c.1093G>T (p.Gly365Ter)
NM_000202.8(IDS):c.1096_1115del (p.Arg366fs)
NM_000202.8(IDS):c.1104_1122del (p.Ser369fs)
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1106C>G (p.Ser369Ter)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter) rs782634993
NM_000202.8(IDS):c.1129del (p.Leu377fs) rs2089341718
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) rs869025306
NM_000202.8(IDS):c.1141del (p.Leu381fs)
NM_000202.8(IDS):c.1141dup (p.Leu381fs)
NM_000202.8(IDS):c.1142_1143del (p.Leu381fs)
NM_000202.8(IDS):c.1143_1153dup (p.Asp385fs)
NM_000202.8(IDS):c.1152del (p.Phe384fs)
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter) rs1557338104
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.419-1G>C
NM_000202.8(IDS):c.419-2A>G rs2089476206
NM_000202.8(IDS):c.419-2A>T
NM_000202.8(IDS):c.419G>T (p.Gly140Val)
NM_000202.8(IDS):c.420del
NM_000202.8(IDS):c.420dup
NM_000202.8(IDS):c.421del (p.Ile141fs)
NM_000202.8(IDS):c.429dup (p.Asn144Ter)
NM_000202.8(IDS):c.433del (p.His145fs)
NM_000202.8(IDS):c.438_439insTT (p.Asp147fs)
NM_000202.8(IDS):c.440_442delinsTT (p.Asp147fs)
NM_000202.8(IDS):c.442G>A (p.Asp148Asn)
NM_000202.8(IDS):c.442G>C (p.Asp148His)
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.443A>C (p.Asp148Ala)
NM_000202.8(IDS):c.443A>T (p.Asp148Val)
NM_000202.8(IDS):c.449del (p.Pro150fs)
NM_000202.8(IDS):c.453T>G (p.Tyr151Ter)
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.454A>G (p.Ser152Gly)
NM_000202.8(IDS):c.454_460del (p.Ser152fs)
NM_000202.8(IDS):c.455G>T (p.Ser152Ile)
NM_000202.8(IDS):c.456C>G (p.Ser152Arg)
NM_000202.8(IDS):c.457T>C (p.Trp153Arg)
NM_000202.8(IDS):c.457del (p.Trp153fs)
NM_000202.8(IDS):c.458G>T (p.Trp153Leu)
NM_000202.8(IDS):c.459del (p.Trp153fs)
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.470dup (p.Tyr158fs)
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.477dup (p.Pro160fs)
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.479C>T (p.Pro160Leu)
NM_000202.8(IDS):c.481_486del (p.Ser161_Ser162del)
NM_000202.8(IDS):c.495T>G (p.Tyr165Ter)
NM_000202.8(IDS):c.496G>T (p.Glu166Ter)
NM_000202.8(IDS):c.500del (p.Asn167fs)
NM_000202.8(IDS):c.504dup (p.Lys169Ter)
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.507+1G>C
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.510_511del (p.Cys171fs)
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr) rs2089452802
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.529G>T (p.Glu177Ter)
NM_000202.8(IDS):c.544del (p.Leu182fs)
NM_000202.8(IDS):c.549_564dup (p.Asp190fs)
NM_000202.8(IDS):c.551G>T (p.Cys184Phe) rs2520864754
NM_000202.8(IDS):c.552C>G (p.Cys184Trp)
NM_000202.8(IDS):c.553_565del (p.Pro185fs)
NM_000202.8(IDS):c.559del (p.Asp187fs)
NM_000202.8(IDS):c.582_595delinsG (p.Thr195fs)
NM_000202.8(IDS):c.589_592del (p.Pro197fs) rs1602742854
NM_000202.8(IDS):c.590del (p.Pro197fs)
NM_000202.8(IDS):c.595A>T (p.Lys199Ter)
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.597dup (p.Gln200fs)
NM_000202.8(IDS):c.598C>T (p.Gln200Ter)
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.610C>T (p.Gln204Ter) rs1557339532
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.613del (p.Ala205fs) rs2089451478
NM_000202.8(IDS):c.614C>A (p.Ala205Asp)
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del) rs2089451270
NM_000202.8(IDS):c.626del (p.Leu209fs)
NM_000202.8(IDS):c.632del (p.Lys211fs) rs2520863360
NM_000202.8(IDS):c.637A>T (p.Lys213Ter)
NM_000202.8(IDS):c.640del (p.Thr214fs)
NM_000202.8(IDS):c.645del (p.Ala216fs)
NM_000202.8(IDS):c.653dup (p.Phe220fs)
NM_000202.8(IDS):c.667_683del (p.Val223fs)
NM_000202.8(IDS):c.670G>C (p.Gly224Arg)
NM_000202.8(IDS):c.671G>A (p.Gly224Glu)
NM_000202.8(IDS):c.671G>C (p.Gly224Ala) rs2520862765
NM_000202.8(IDS):c.683dup (p.His229fs)
NM_000202.8(IDS):c.685C>T (p.His229Tyr) rs2520862570
NM_000202.8(IDS):c.686A>G (p.His229Arg) rs193302905
NM_000202.8(IDS):c.686A>T (p.His229Leu)
NM_000202.8(IDS):c.687C>A (p.His229Gln)
NM_000202.8(IDS):c.687del (p.His229fs) rs2089450471
NM_000202.8(IDS):c.688A>T (p.Ile230Phe) rs1557339507
NM_000202.8(IDS):c.693del (p.Phe232fs)
NM_000202.8(IDS):c.701_708del (p.Arg233_Tyr234insTer)
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.702C>G (p.Tyr234Ter)
NM_000202.8(IDS):c.705del (p.Lys236fs)
NM_000202.8(IDS):c.708+1G>T rs864622778
NM_000202.8(IDS):c.709-1G>C
NM_000202.8(IDS):c.709dup
NM_000202.8(IDS):c.715C>T (p.Gln239Ter)
NM_000202.8(IDS):c.715_721del (p.Gln239fs) rs2089438281
NM_000202.8(IDS):c.721_727delinsAAGGGGG (p.Leu241_Pro243delinsLysGlyAla)
NM_000202.8(IDS):c.722dup (p.Leu241fs)
NM_000202.8(IDS):c.726T>A (p.Tyr242Ter)
NM_000202.8(IDS):c.733G>T (p.Glu245Ter)
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.748_749delinsA (p.Ala250fs)
NM_000202.8(IDS):c.748dup (p.Ala250fs)
NM_000202.8(IDS):c.753dup (p.Asp252fs)
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305
NM_000202.8(IDS):c.760G>T (p.Glu254Ter)
NM_000202.8(IDS):c.768del (p.Asp257fs)
NM_000202.8(IDS):c.776_777dup (p.Pro260fs) rs2089437359
NM_000202.8(IDS):c.776_779del (p.Leu259fs)
NM_000202.8(IDS):c.780_793del (p.Val262fs)
NM_000202.8(IDS):c.782del (p.Pro261fs) rs2520851440
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs) rs2089437147
NM_000202.8(IDS):c.787del (p.Ala263fs)
NM_000202.8(IDS):c.794del (p.Asn265fs)
NM_000202.8(IDS):c.797C>A (p.Pro266His)
NM_000202.8(IDS):c.797C>G (p.Pro266Arg)
NM_000202.8(IDS):c.798del (p.Trp267fs)
NM_000202.8(IDS):c.800G>A (p.Trp267Ter)
NM_000202.8(IDS):c.800_801del (p.Trp267fs) rs2089436972
NM_000202.8(IDS):c.801G>A (p.Trp267Ter)
NM_000202.8(IDS):c.801_802del (p.Trp267fs)
NM_000202.8(IDS):c.801del (p.Pro266_Trp267insTer)
NM_000202.8(IDS):c.801dup (p.Met268fs) rs2089436936
NM_000202.8(IDS):c.805_808dup (p.Ile270fs)
NM_000202.8(IDS):c.812_813insA (p.Gln272fs)
NM_000202.8(IDS):c.814C>T (p.Gln272Ter) rs2089436689
NM_000202.8(IDS):c.815_818dup (p.Glu274fs)
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.817del (p.Arg273fs)
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.820dup (p.Glu274fs)
NM_000202.8(IDS):c.822del (p.Asp275fs)
NM_000202.8(IDS):c.829C>T (p.Gln277Ter) rs2089436387
NM_000202.8(IDS):c.836T>G (p.Leu279Ter)
NM_000202.8(IDS):c.836del (p.Ala278_Leu279insTer)
NM_000202.8(IDS):c.838_842del (p.Asn280fs) rs2089436271
NM_000202.8(IDS):c.854del (p.Tyr285fs)
NM_000202.8(IDS):c.867del (p.Val290fs) rs2520850014
NM_000202.8(IDS):c.876_877del (p.Phe292fs)
NM_000202.8(IDS):c.877C>T (p.Gln293Ter) rs2124041126
NM_000202.8(IDS):c.877_878del (p.Gln293fs)
NM_000202.8(IDS):c.879+1G>A
NM_000202.8(IDS):c.879+2T>A
NM_000202.8(IDS):c.880-1G>A
NM_000202.8(IDS):c.880-1G>C
NM_000202.8(IDS):c.880-2A>C rs2520813902
NM_000202.8(IDS):c.880-2A>G rs2520813902
NM_000202.8(IDS):c.880-2A>T rs2520813902
NM_000202.8(IDS):c.886dup (p.Ile296fs) rs2124020896
NM_000202.8(IDS):c.892C>T (p.Gln298Ter)
NM_000202.8(IDS):c.895dup (p.Ser299fs) rs2124020775
NM_000202.8(IDS):c.899_900del (p.Tyr300fs) rs2089380268
NM_000202.8(IDS):c.904del (p.Ala302fs)
NM_000202.8(IDS):c.908_909del (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.911del (p.Val304fs)
NM_000202.8(IDS):c.922G>A (p.Asp308Asn)
NM_000202.8(IDS):c.922G>T (p.Asp308Tyr)
NM_000202.8(IDS):c.924T>G (p.Asp308Glu)
NM_000202.8(IDS):c.928C>T (p.Gln310Ter)
NM_000202.8(IDS):c.937del (p.Arg313fs)
NM_000202.8(IDS):c.939_954del (p.Leu314fs)
NM_000202.8(IDS):c.940del (p.Leu314fs)
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.957_958insT (p.Asp320Ter)
NM_000202.8(IDS):c.964C>T (p.Gln322Ter)
NM_000202.8(IDS):c.976_979dup (p.Thr327fs)
NM_000202.8(IDS):c.996del (p.Ser333fs)
NM_000202.8(IDS):c.998C>A (p.Ser333Ter) rs104894853
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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